{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T01:01:57Z","timestamp":1784682117950,"version":"3.55.0"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T00:00:00Z","timestamp":1762646400000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Movement disorders are common in inherited metabolic diseases (IMDs) and significantly impact quality of life. Unfortunately, they are often underrecognised by metabolic physicians. This study investigated whether a new screening tool improves recognition of movement disorders in IMD patients by non\u2010neurologists. Internists and paediatricians specialized in IMDs assessed videos of 44 IMD patients who perform four specific neurological tests, to evaluate the presence and phenotype of a movement disorder. Initially, baseline assessments were performed without the tool. Eight months later, the same videos were assessed using an instructional video demonstrating the four neurological tests, and a screening tool including these tests with 14 yes\/no questions regarding observed abnormalities. One hundred and forty\u2010nine assessments were conducted by 15 metabolic internists and paediatricians. At baseline, 70% (105\/149) of assessments correctly determined the presence of a movement disorder. Sensitivity of the tool was 68%. In the second measurement, when the outcome of the tool was considered decisive (with at least one positive answer indicating a movement disorder), 79% (117\/149) of assessments were correct. Sensitivity of the tool increased to 87% (Chi\u2010square\u2009=\u200915.75,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.001). All severe and moderately severe movement disorders were recognized in the second measurement. The tool and instructional video did not enhance recognition of specific movement disorder phenotypes. However, the tool did improve the accuracy of treatment indications (chi\u2010square\u2009=\u20094.000,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.05). The correct use of the screening tool significantly increased the sensitivity and thereby the recognition of movement disorders in IMD patients, though referral to a neurologist remains necessary for phenotype identification.\n                  <\/jats:p>","DOI":"10.1002\/jimd.70105","type":"journal-article","created":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T07:53:12Z","timestamp":1762761192000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases"],"prefix":"10.1002","volume":"48","author":[{"given":"Ellen M.","family":"Hulshof","sequence":"first","affiliation":[{"name":"Department of Neurology University of Groningen, University Medical Centre Groningen  Groningen the Netherlands"},{"name":"Expertise Centre Movement Disorders Groningen University Medical Centre Groningen  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugo P.","family":"Lantinga","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Groningen, University Medical Centre Groningen  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gonnie","family":"Alkemade","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annet M.","family":"Bosch","sequence":"additional","affiliation":[{"name":"Department of Paediatric Metabolic Diseases, Emma Children's Hospital Amsterdam University Medical Centre, University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion M.","family":"Brands","sequence":"additional","affiliation":[{"name":"Department of Paediatric Metabolic Diseases, Emma Children's Hospital Amsterdam University Medical Centre, University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danique Draaisma\u2010van","family":"Vliet","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases, Beatrix Children's Hospital University of Groningen, University Medical Centre Groningen  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea B.","family":"Haijer\u2010Schreuder","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases, Beatrix Children's Hospital University of Groningen, University Medical Centre Groningen  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva M. M.","family":"Hoytema van Konijnenburg","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Centre Utrecht  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirian C. H.","family":"Janssen","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Radboud University Medical Centre  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie M.","family":"van der Klauw","sequence":"additional","affiliation":[{"name":"Department of Endocrinology University of Groningen, University Medical Centre Groningen  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirjam","family":"Langeveld","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8058-440X","authenticated-orcid":false,"given":"Charlotte M. A.","family":"Lubout","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases, Beatrix Children's Hospital University of Groningen, University Medical Centre Groningen  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonja L.","family":"van Ockenburg","sequence":"additional","affiliation":[{"name":"Department of Endocrinology University of Groningen, University Medical Centre Groningen  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0107-6835","authenticated-orcid":false,"given":"Esmeralda","family":"Oussoren","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Centre for Lysosomal and Metabolic Diseases Erasmus Medical Centre, University Medical Centre Rotterdam  Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bianca","family":"Panis","sequence":"additional","affiliation":[{"name":"Department of Genetic Metabolic Diseases, Department of Paediatrics Maastricht University Medical Centre  Maastricht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Sjouke","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Radboud University Medical Centre  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4316-5481","authenticated-orcid":false,"given":"Maaike","family":"de Vries","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Radboud University Medical Centre  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margreet A. E. M.","family":"Wagenmakers","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Centre for Lysosomal and Metabolic Diseases Erasmus Medical Centre, University Medical Centre Rotterdam  Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Wijnen","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Centre for Lysosomal and Metabolic Diseases Erasmus Medical Centre, University Medical Centre Rotterdam  Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah A.","family":"Sival","sequence":"additional","affiliation":[{"name":"Expertise Centre Movement Disorders Groningen University Medical Centre Groningen  Groningen the Netherlands"},{"name":"Department of Paediatric Neurology University of Groningen, University Medical Centre Groningen, Beatrix Children's Hospital  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina A. J.","family":"Tijssen","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Groningen, University Medical Centre Groningen  Groningen the Netherlands"},{"name":"Expertise Centre Movement Disorders Groningen University Medical Centre Groningen  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5609-1309","authenticated-orcid":false,"given":"Tom J.","family":"de Koning","sequence":"additional","affiliation":[{"name":"Expertise Centre Movement Disorders Groningen University Medical Centre Groningen  Groningen the Netherlands"},{"name":"Department of Genetics University Medical Centre Groningen, University of Groningen  Groningen the Netherlands"},{"name":"Department of Paediatrics, Clinical Sciences Lund University  Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2864-4225","authenticated-orcid":false,"given":"Lisette H.","family":"Koens","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Groningen, University Medical Centre Groningen  Groningen the Netherlands"},{"name":"Expertise Centre Movement Disorders Groningen University Medical Centre Groningen  Groningen the Netherlands"},{"name":"Department of Neurology and Clinical Neurophysiology Martini Hospital  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,11,9]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010014\u20100177\u20106"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010008\u20100854\u20105"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2009.11.005"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.31887\/DCNS.2018.20.4\/jmsaudubray"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010009\u20101194\u20109"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27568"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcl.2017.11.002"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29332"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a009621"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcna.2022.02.002"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/CON.0000000000000756"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2018.02.003"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010016\u20100502\u20103"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2015.07.003"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12054"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2021.02.029"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cnp.2022.09.003"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen\u20102021\u2010055068"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.70105","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jimd.70105","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.70105","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T00:12:07Z","timestamp":1784679127000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.70105"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":18,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1002\/jimd.70105"],"URL":"https:\/\/doi.org\/10.1002\/jimd.70105","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11]]},"assertion":[{"value":"2025-04-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70105"}}